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Variant (rsID / SNP)

rs72552271

SLC16A1

rs72552271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC16A1. Location: chromosome 1, position 113,456,602. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC16A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:113456602
Cytoband
1p13.2
HGVS
NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)
Allele change
Missense_G472R

Associated conditions / phenotypes

Metabolic myopathy due to lactate transporter defect

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.